Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118339902G>TCA149743CD3Dn.766C>A
n.284C>A
n.2264C>A
c.279C>A (p.Cys93Ter)
c.275-408C>A (n.275-408C>A)
n.80-408C>A
c.60C>A (p.Cys20Ter)
c.288-408C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118339902G=CA2003457074CD3Dn.766C=
n.284C=
n.2264C=
c.279C= (p.Cys93=)
c.275-408C= (n.275-408C=)
n.80-408C=
c.60C= (p.Cys20=)
c.288-408C=
dbSNP

Number of alleles fetched